Canonical Allele Identifier: CA2122489478

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415672_21415673delinsAT , CM000676.2:g.21415672_21415673delinsAT	GRCh38
NC_000014.8:g.21883831_21883832delinsAT , CM000676.1:g.21883831_21883832delinsAT	GRCh37
NC_000014.7:g.20953671_20953672delinsAT	NCBI36
NG_021249.1:g.26626_26627delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1063-31_1063-30delinsAT	ENSP00000406288.3:n.1063-31_1063-30delinsAT
ENST00000555962.6:c.-110-12631_-110-12630delinsAT	ENSP00000495174.1:n.-110-12631_-110-12630delinsAT
ENST00000557364.6:c.1900-31_1900-30delinsAT	ENSP00000451601.1:n.1900-31_1900-30delinsAT
ENST00000642914.1:n.883-31_883-30delinsAT
ENST00000643469.1:c.1900-31_1900-30delinsAT	ENSP00000495070.1:n.1900-31_1900-30delinsAT
ENST00000645140.1:c.1812-31_1812-30delinsAT
ENST00000645206.1:n.414-31_414-30delinsAT
ENST00000645929.1:c.1063-31_1063-30delinsAT	ENSP00000494402.1:n.1063-31_1063-30delinsAT
ENST00000646340.1:c.1906-31_1906-30delinsAT	ENSP00000496730.1:n.1906-31_1906-30delinsAT
ENST00000646647.2:c.1900-31_1900-30delinsAT MANE Select	ENSP00000495240.1:n.1900-31_1900-30delinsAT
ENST00000399982.6:c.1900-31_1900-30delinsAT	ENSP00000382863.2:n.1900-31_1900-30delinsAT
ENST00000430710.7:c.1063-31_1063-30delinsAT	ENSP00000406288.3:n.1063-31_1063-30delinsAT
ENST00000555962.5:n.151-12631_151-12630delinsAT
ENST00000557364.5:c.1900-31_1900-30delinsAT	ENSP00000451601.1:n.1900-31_1900-30delinsAT
NM_001170629.1:c.1900-31_1900-30delinsAT	NP_001164100.1:n.1900-31_1900-30delinsAT
NM_020920.3:c.1063-31_1063-30delinsAT	NP_065971.2:n.1063-31_1063-30delinsAT
NM_001170629.2:c.1900-31_1900-30delinsAT MANE Select	NP_001164100.1:n.1900-31_1900-30delinsAT
NM_020920.4:c.1063-31_1063-30delinsAT	NP_065971.2:n.1063-31_1063-30delinsAT